title: Camurati-Engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene.
abstract: We report on a family affected by Camurati-Engelmann disease, characterized by radiological signs limited to the tibia, and associated with overweight or obesity, which is not a known feature of this disorder. The affected patients were heterozygous for a c.466C > T mutation (which predicts p.Arg156Cys) in the latency associated protein (LAP)-coding domain of the TGFB1 gene. This mutation had previously been reported once in another family with a similar, atypical phenotype, which suggests a possible phenotype/genotype relationship.
authors.affiliation: UF de Génétique Moléculaire, Service de Biochimie et de Biologie Moléculaire, pôle B2P, GH Saint-Louis Lariboisière Fernand Widal Inserm U606, Paris, France. corinne.collet@lrb.aphp.fr
authors.forename: Corinne
authors.initials: C
authors.lastname: Collet
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Laplanche
authors.forename: Marie-Christine
authors.initials: MC
authors.lastname: de Vernejoul
mesh_terms: D000328:Adult; D003966:Camurati-Engelmann Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D009765:Obesity / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D053773:Transforming Growth Factor beta1 / Q000235:genetics*; D055815:Young Adult
chemical_list: C508960:TGFB1 protein, human; D053773:Transforming Growth Factor beta1
keywords: Camurati-Engelman; TGFB1; mutation; obesity